A Case Report of X-Linked Hyperimmunoglobulin M Syndrome with Lipoma Arborescens of Knees

Abstract

The X-linked hyperimmunoglobulin M syndrome (HIGM), caused by mutations in the CD40LG gene, is a kind of primary immunodeficiency disease (PID). Patients with X-linked HIGM are susceptible to infection as well as autoimmune diseases. Lipoma arborescens (LA) is a rare benign tumor, of which the pathogenesis mechanism has not been clearly understood. We report a case of HIGM combined with LA in a 22-year-old male patient. A new deletion mutation of CD40LG gene was detected in this case. The possible relationship between HIGM and LA was also discussed.

"Secondary Lipoma Arborescens of the Knee Associate with Giant Popliteal Synovial Cyst. A Case Presentation"

“…Lipoma arborescens is a rare articular lesion consisting of subsynovial villous proliferation of mature fat cells [1]. Although its exact etiology remains unknown, two types of Lipomas arborescens have been described [2,3]. The primary type is rare, idiopathic and occurs in young patients [4,5].…”

In Silico Analysis and Modeling of Novel Pathogenic Single Nucleotide Polymorphisms (SNPs) in HumanCD40LGGene

“…[20] CD40LG acts as an immune modulator in activated T cells [21] Inactivation of CD40LG gene resulted from the insertion of an AluYb8 element in exon 1 responsible for a total deficiency of CD40 ligand expression by T lymphocytes [22] Interestingly, some study shows that, not all mutations occur in CD40LG gene may cause XHIGM [23] Different mutations have been reported. [23][24][25][26][27][28][29][30][31][32] As far as we know there are two options for treatment, either hematopoietic stem cell transplantation or intravenous immunoglobulin replacement therapy. [33] but it is sometimes completely ignored because of low recognition and limited knowledge of this rare disease.…”

Estudo fitoquímico e biológico do cambucá Plinia edulis (Vell.) Sobral - Myrtaceae

“…Em estudos in vitro, a -amirina apresentou potente atividade frente a diferentes linhagens de células neoplásicas humanas de câncer de cólon, assim como moderada atividade em células de pulmão (DONG;ONO et al, 2004).…”